Because Familial Dysautonomia (FD) is an orphan disease, diagnosing FD at birth rarely occurs. Instead, a baby born with FD is often medically labeled with “failure to thrive,” “congenital benign hypotonia,” “colicy,” and “failure to suck.”
As the baby develops and FD symptoms emerge, a definitive diagnosis is available from a simple genetic blood test. If positive for FD, the blood test will reveal mutations in the IKBKAP (now known as ELP1) gene. This genetic blood test for FD has been available since 2001, thanks to the gene discovery by researchers Drs. Rubin and Anderson.
Note that prior to 2001, parents and doctors depended on observation to detect FD. Still reliable, these indicators are:
- both parents are from an Ashkenazi Jewish background
- the baby’s tongue is smooth, signifying an absence of fungiform papillae (large bumps that contain taste buds)
- the baby does not produce overflow tears when upset, and
- the baby does not involuntarily respond when tapped with a reflex hammer.